Journal Article

Aortic abnormalities in males with Alport syndrome

Clifford E. Kashtan, Yoav Segal, Frances Flinter, David Makanjuola, Jay-Sen Gan and Terry Watnick

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 25, issue 11, pages 3554-3560
Published in print November 2010 | ISSN: 0931-0509
Published online May 2010 | e-ISSN: 1460-2385 | DOI:
Aortic abnormalities in males with Alport syndrome

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Background. There have been isolated case reports of arterial disease in males with Alport syndrome (AS), a systemic disorder of Type IV collagen. In this paper, we describe five new cases of AS associated with significant aortic disease including dissection and aneurysm.

Methods. We present brief clinical descriptions of five males with AS and aortic disease. We performed immunohistochemical analysis of the expression of the α5 chain of Type IV collagen in skin basement membranes from a previously reported family with AS and associated aortic disease and in the aortic media of male mice with X-linked Alport syndrome (XLAS) due to a nonsense mutation in the COL4A5 gene.

Results. Three of the five patients exhibited aneurysm and dissection of the thoracic aorta, occurring at 25–32 years of age, while one had aortic dilatation and another had aortic insufficiency. All five men required renal replacement therapy by age 20. Immunohistochemistry of skin biopsy specimens in previously reported male siblings with aortic disease confirmed that they had XLAS. We further found that the α5 chain of Type IV collagen is abnormally absent from aortic media of transgenic mice with XLAS.

Conclusions. Early onset aortic disease may be an unusual feature of AS. Screening of men with AS for aortic abnormalities may be clinically indicated in some families.

Keywords: aortic aneurysm; aortic dissection; Alport syndrome; type IV collagen

Journal Article.  3500 words.  Illustrated.

Subjects: Nephrology

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